Number of Panel Genes: 
3

Basal cell nevus syndrome (BCNS; MIM 109400) also known as Gorlin syndrome, is an autosomal dominant disease characterized by basal cell tumors, palmar and plantar pits, jaw cysts and skeletal anomalies. Radiological findings include calcification of the falx cerebri, bridged sella, bifid ribs, hemivertebrae, and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands.read more

Tests Available

3 Panel Genes: PTCH1, PTCH2, SUFU
Next Generation Sequencing
$1,100
Test Code: 2220
Deletion / Duplication
$800
Test Code: 2221
NGS/Del Dup Comprehensive
$1,800
Test Code: 2222

Test Details

Technical Information
Panel Genes: 
PTCH1, PTCH2, SUFU
Disease Groups: 
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,100
CPT Codes: 
81479 x 3
Ordering
SKU:
2220
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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